{"id":4408,"date":"2020-10-31T13:14:54","date_gmt":"2020-10-31T12:14:54","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4408"},"modified":"2025-12-12T16:59:22","modified_gmt":"2025-12-12T15:59:22","slug":"neurofibromatosis-type-1-nf1","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/neurofibromatosis-type-1-nf1\/","title":{"rendered":"Neurofibromatosis type 1 (NF1)"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Publicaties Neurofibromatose type 1″ tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]Ottenhoff MJ, et al. (2025). The effect of lamotrigine on cortical inhibition and plasticity in Neurofibromatosis type 1: Exploratory analysis of a randomized controlled trial (NF1-EXCEL).<\/strong> Neurophysiol.<\/em>, Pubmed<\/a><\/p>\n

Dhaenens BAE, et al. (2025). Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM<\/strong>.\u00a0 J. Med. Genet.<\/em>, Pubmed<\/a><\/p>\n

de Brons B, et al. (2025). Identification of the Determinants of Plexiform Neurofibroma Morbidity in Pediatric and Young Adult Neurofibromatosis Type 1 Patients: A Pilot Multivariate Approach. <\/strong>Cancers<\/em>, Pubmed<\/a><\/p>\n

Lubbers K, et al. (2024). Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1. <\/strong> Autism Dev. Disord.,<\/em> Pubmed<\/a><\/p>\n

Ottenhoff MJ, et al. (2024) Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.<\/strong>\u00a0<\/span>Dev Med Child Neurol<\/span>.<\/em> Pubmed<\/a><\/p>\n

Dhaenens BAE, et al. (2024) Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.<\/span>\u00a0<\/strong>Neurooncol Pract<\/span>.<\/em> Pubmed\u00a0<\/a><\/p>\n

Dhaenens BAE, et al. (2024) Quality of life in individuals with neurofibromatosis type 1 associated cutaneous neurofibromas: validation of the Dutch cNF-Skindex.<\/span><\/strong>\u00a0J Patient Rep Outcomes<\/span>.<\/em> Pubmed<\/a><\/p>\n

Rosenberg AGW, et al. (2024) Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.<\/span>\u00a0Front Endocrinol (Lausanne)<\/span>.<\/strong> Pubmed\u00a0<\/a><\/p>\n

Dhaenens BAE, et.al. (2024) The PlexiQoL, a patient-reported outcome measure on quality of life in neurofibromatosis type 1-associated plexiform neurofibroma: translation, cultural adaptation and validation into the Dutch language for the Netherlands.<\/strong> J Patient Rep Outcomes.<\/em> Pubmed<\/a><\/span><\/p>\n

Bennebroek CA, et.al. (2023) Treatment evaluation by volumetric segmentation in pediatric optic pathway glioma: evaluation of the effect of bevacizumab on intra-tumor components.<\/strong> J Neurooncol. <\/em>Pubmed<\/a><\/span><\/p>\n

Taal W, et.al. (2023) Symptomatische tumoren bij neurofibromatose type 1 Symptomatic tumors in neurofibromatosis type 1: a diagnostic challenge.<\/strong> Ned Tijdschr Geneeskd. <\/em>Pubmed<\/a><\/span><\/p>\n

Dhaenens BAE, et.al. (2023) Health-related quality of life of children with neurofibromatosis type 1: Analysis of proxy-rated PedsQL and CHQ questionnaires.<\/strong> Eur J Paediatr Neurol.<\/em> Pubmed<\/a><\/span><\/p>\n

Carton C, et.al. (2023) ERN GENTURIS NF1 Tumour Management Guideline Group. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.<\/strong> Pubmed<\/a><\/span><\/p>\n

Castricum J, et.al. (2023) Visual-spatial and visuomotor functioning in adults with neurofibromatosis type 1<\/strong>. J Intellect Disabil Res<\/em>. Pubmed<\/span><\/a><\/p>\n

Ottenhoff MJ, et.al. (2022) Cerebellum-dependent associative learning is not impaired in a mouse model of neurofibromatosis type 1<\/strong>. Sci Rep.<\/em> Nov 9;12(1):19041. Pubmed<\/a><\/span><\/p>\n

Douben HCW, et.al. (2022) High-yield identification of pathogenic NF1 variants in skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing. <\/strong>Hum Mutat<\/em>. Pubmed<\/a><\/span><\/p>\n

Castricum J, et.al. (2022) Plasticity of visual evoked potentials in patients with neurofibromatosis type 1. <\/strong>Clin Neurophysiol. <\/em>Pubmed<\/a><\/span><\/p>\n

Lubbers K, et.al. (2022) Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.<\/strong> Front Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

Dhaenens BAE, et.al. (2021) Lessons learned from drug trials in neurofibromatosis: A systematic review<\/strong>. Eur J Med Genet. 2021 Jul 5:104281. Pubmed<\/a><\/span><\/p>\n

Castricum J, Tulen JHM, Taal W, Rietman AB, Elgersma Y (2021). Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1<\/strong>. J Atten Disord.<\/em> Pubmed<\/a><\/span><\/p>\n

Dhaenens BAE, et.al. (2021). Identifying challenges in neurofibromatosis: a modified Delphi procedure<\/strong>. Eur J Hum Genet.<\/em> 26:1\u20139 Pubmed<\/a><\/span><\/p>\n

Fangusaro J,\u00a0et.al.\u00a0<\/em>(2020)\u00a0Response assessment in paediatric low-grade glioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group.\u00a0<\/strong>Lancet Oncol.\u00a0<\/em>21(6); e305-16.\u00a0Pubmed<\/span><\/a><\/p>\n

Amirnasr A, et.al.<\/em> (2020) Deregulated microRNAs in neurofibromatosis type 1 derived malignant peripheral nerve sheet tumors. <\/strong>Sci. Rep. <\/em>10:2927. Pubmed<\/span><\/a><\/p>\n

Castricum J, et.al.<\/em> (2020) Motor cortical excitability and plasticity in patients with neurofibromatosis type 1. <\/strong>Clin Neurophysiol. <\/em>131(11); 2673-81. Pubmed<\/span><\/a><\/p>\n

Ottenhoff MJ, et al.<\/em>(2020) Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.<\/strong> Genet Med.<\/em>1-9. Pubmed<\/span><\/a><\/p>\n

Frebourg T,\u00a0et.al.\u00a0<\/em>(2020)\u00a0Guidelines for the Li-Fraumeni and heritable TP53 related cancer syndromes.\u00a0<\/strong>Eur J Hum Genet.\u00a0<\/em>28(10); 1379-86.\u00a0Pubmed<\/span><\/a><\/p>\n

Siebelt M, et al.<\/em> (2019) Congenital Forearm Pseudarthrosis, a Systematic Review for a Treatment Algorithm on a Rare Condition.<\/strong> J Pediatr Orthop<\/em>. 40; e367-74. Pubmed<\/span><\/a><\/p>\n

Vos JR,\u00a0et.al.<\/em> (2019)\u00a0Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes.\u00a0<\/strong>Fam Cancer.\u00a0<\/em>18(2); 281-4.\u00a0Pubmed<\/span><\/a><\/p>\n

Koczkowska M,\u00a0et.al.\u00a0<\/em>(2019) Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.\u00a0<\/strong>Genet. Med.\u00a0<\/em>21(4); 867-76.\u00a0Pubmed<\/span><\/a><\/p>\n

Rietman AB, et al.<\/em> (2018) Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1.<\/strong> Am J Med Genet B Neuropsychiatr Genet. <\/em>177; 319\u201328. Pubmed<\/span><\/a><\/p>\n

Rietman AB, et al.<\/em> (2018) Worries and needs of adults and parents of adults with neurofibromatosis type 1.<\/strong> Am J Med Genet A.<\/em> 176; 1150\u201360. Pubmed<\/span><\/a><\/p>\n

Eijk S, et al.<\/em> (2018) Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).<\/strong> J Autism Dev Disord<\/em>. 48; 2278\u201385. Pubmed<\/span><\/a><\/p>\n

Amirnasr A,\u00a0et.al.<\/em> (2017)\u00a0Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors.\u00a0<\/strong>PLoS One.\u00a0<\/em>12(8); e0183155.\u00a0Pubmed<\/span><\/a><\/p>\n

Rietman AB, et al.<\/em> (2017) Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood.<\/strong> Am J Med Genet A<\/em>. 173; 2373\u201380. Pubmed<\/span><\/a><\/p>\n

Rietman AB, et al.<\/em> (2017) Motor problems in children with neurofibromatosis type 1.<\/strong> J Neurodev Disord. <\/em>Pubmed<\/span><\/a><\/p>\n

van der Vaart T, et al.<\/em> (2016) Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1.<\/strong> Neurology<\/em> 86;154\u201360. Pubmed<\/span><\/a><\/p>\n

Omrani A, et al.<\/em> (2015) HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.<\/strong> Mol Psychiatry<\/em> 20; 1311\u201321. Pubmed<\/span><\/a><\/p>\n

Omrani A, et.al. <\/em>(2015) Neurofibromin regulates HCN activity in Parvalbumin-positive interneurons.<\/strong> Mol Psychiatry.<\/em> 20; 1263. Pubmed<\/span><\/a><\/p>\n

Van Der Vaart, T. et al.<\/em> (2013) Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial.<\/strong> Lancet Neurol<\/em> 12, 1076\u20131083. Pubmed<\/span><\/a><\/p>\n

van Minkelen, R. et al.<\/em> (2013) A clinical and genetic overview of 18\u2009years neurofibromatosis type 1 molecular diagnostics in the Netherlands.<\/strong> Clin Genet<\/em>. Pubmed<\/span><\/a><\/p>\n

Acosta, M.T. et al.<\/em> (2012) The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.<\/strong> Am J Med Genet A<\/em> 158, 2225\u20132232. Pubmed<\/span><\/a><\/p>\n

van der Vaart, T. et al.<\/em> (2011) Motor deficits in neurofibromatosis type 1 mice: the role of the cerebellum.<\/strong> Genes Brain Behav<\/em> 10, 404\u2013409. Pubmed<\/span><\/a><\/p>\n

Krab, L.C. et al.<\/em> (2011) Motor learning in children with neurofibromatosis type I.<\/strong> Cerebellum<\/em> 10, 14\u201321. Pubmed<\/span><\/a><\/p>\n

Krab, L.C. et al.<\/em> (2009) Health-related quality of life in children with neurofibromatosis type 1: contribution of demographic factors, disease-related factors, and behavior.<\/strong> J Pediatr<\/em> 154, 420\u20135, 425.e1. Pubmed<\/span><\/a><\/p>\n

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Cui, Y. et al.<\/em> (2008) Neurofibromin regulation of ERK signaling modulates GABA release and learning. <\/strong>Cell<\/em> 135, 549\u2013560. Pubmed<\/span><\/a><\/p>\n

Krab, L.C. et al.<\/em> (2008) Impact of neurofibromatosis type 1 on school performance.<\/strong> J Child Neurol<\/em> 23, 1002\u20131010. Pubmed<\/span><\/a><\/p>\n

Krab, L.C. et al.<\/em> (2008) Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial.<\/strong> JAMA<\/em> 300, 287\u2013294. Pubmed<\/span><\/a><\/p>\n

Balgobind, B.V. et al.<\/em> (2008) Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. <\/strong>Blood<\/em> 111, 4322\u20134328. Pubmed<\/span><\/a><\/p>\n

van Engelen, S.J.P.M. et al.<\/em> (2008) Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging. <\/strong>AJNR Am J Neuroradiol <\/em>29, 816\u2013822. Pubmed<\/span><\/a><\/p>\n

Oostenbrink, R. et al.<\/em> (2007) Parental reports of health-related quality of life in young children with neurofibromatosis type 1: influence of condition specific determinants.<\/strong> J Pediatr<\/em> 151, 182\u20136\u2013 186.e1\u20132. Pubmed<\/span><\/a><\/p>\n

Cnossen, M.H. et al.<\/em> (1998) Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children. <\/strong>J Med Genet<\/em> 35, 624\u2013627. Pubmed<\/span><\/a><\/p>\n

Cnossen, M.H. et al.<\/em> (1998) A prospective 10 year follow up study of patients with neurofibromatosis type 1.<\/strong> Arch. Dis. Child.<\/em> 78, 408\u2013412. Pubmed<\/span><\/a><\/p>\n

Cnossen, M.H. et al.<\/em> (1997) Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1.<\/strong> Pediatrics<\/em> 100, 667\u2013670. Pubmed<\/span><\/a><\/p>\n

Cnossen, M.H. et al.<\/em> (1997) Diagnostic delay in neurofibromatosis type 1. <\/strong>Eur J Pediatr<\/em> 156, 482\u2013487. Pubmed<\/span><\/a><\/p>\n

Cnossen, M.H. et al. (1997) Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? <\/strong>Hum Mutat<\/em> 9, 458\u2013464. Pubmed<\/span><\/a>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Publicaties Neurofibromatose type 1″ tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]Ottenhoff MJ, et al. (2025). The effect of lamotrigine on cortical inhibition and plasticity in Neurofibromatosis type 1: Exploratory analysis of a randomized controlled trial (NF1-EXCEL). Neurophysiol., Pubmed Dhaenens BAE, et al. (2025). Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM.\u00a0 J. Med. Genet., […]<\/p>","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4408"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4408"}],"version-history":[{"count":22,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4408\/revisions"}],"predecessor-version":[{"id":5371,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4408\/revisions\/5371"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4408"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}